P449L (p.Pro449Leu) variant of ACVRL1 (Activin receptor type-1-like)
P449L (p.Pro449Leu) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
P449L (p.Pro449Leu) variant details
- p.Pro449Leu
- rs2139084385
- ClinGen CA384904323
- ClinVar RCV002017990
- ClinVar RCV002386900
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic, type 2; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.92
- MetaLR 0.47
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Telangiectasia, hereditary hemorrhagic)
- EBI: Pathogenic (in HHT2)
- UniProt: Pathogenic (in HHT2)
- Structural context available
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)
- Cited in: International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. (PMID 19553198)